Baby4

1. Name of the genetic disease. Down's Syndrome
2. Symptoms of disease Flat face, short neck, abnormally shaped ears, small hands and feet, and poor muscle tone.
Also health symptoms like Heart disease, problems like a cataracts, and Celiac disease.
3. When is the disease usually detected... at birth or later in life? At birth.
4. Frequency of carriers of this disease in the population - 1 out of 800
5. Frequency of disease in the population 0.8%
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction? Recessive sex-linked
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes? The X-Linked Chromosomes
8. What chromosome number has been determined to carry this gene? Extra 21st Chromosome.
9. What treatment, if any, is used for this disease? How does the treatment affect the disease? There is no treatment.
10. What is the prognosis or outlook for your baby's recovery? Down's Syndrome leaves 85% infants living after a year, then later on gets worse.
11. What future techniques might be used to correct or eliminate your baby's disease? Change the Chromosomes.
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease. What choices to make in life, getting a job, schools.
13. Include diagrams of your child or factors related to your disease.
trisomy21_karyotype.jpg